Variant report

Variant	rs11628257
Chromosome Location	chr14:77650690-77650691
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:77606589..77609950-chr14:77648751..77652223,3	MCF-7	breast:
2	chr14:77646733..77650700-chr14:77767687..77771144,4	MCF-7	breast:
3	chr14:77647339..77650955-chr14:77785389..77788358,5	MCF-7	breast:
4	chr14:77646578..77649523-chr14:77650079..77652080,2	MCF-7	breast:
5	chr14:77635396..77638005-chr14:77648912..77652690,3	MCF-7	breast:
6	chr14:77649385..77652123-chr14:77652331..77653941,2	K562	blood:
7	chr14:77648085..77652144-chr14:77770230..77773335,4	MCF-7	breast:
8	chr14:77648815..77651444-chr14:77730169..77732622,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000100577	Chromatin interaction
ENSG00000221754	Chromatin interaction
ENSG00000165548	Chromatin interaction
ENSG00000269883	Chromatin interaction
ENSG00000009830	Chromatin interaction
ENSG00000177108	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11159252	1.00[ASN][1000 genomes]
rs11620648	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11621596	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11625327	0.89[CEU][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11627977	1.00[ASN][1000 genomes]
rs11629219	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17812088	0.80[CEU][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[TSI][hapmap];0.83[EUR][1000 genomes]
rs60803895	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61990332	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61991597	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61991600	1.00[ASN][1000 genomes]
rs7144771	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7147670	1.00[ASN][1000 genomes]
rs7150602	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs8009449	1.00[ASN][1000 genomes]
rs8011512	0.85[CEU][hapmap];0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs8017343	1.00[CEU][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8018063	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8018183	1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9989201	0.81[GIH][hapmap];0.94[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431017	chr14:76938089-77854647	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	107 gene(s)	inside rSNPs	diseases
2	nsv832834	chr14:77554987-77724357	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:77648600-77653000	Weak transcription	Fetal Heart	heart
2	chr14:77648800-77650800	Bivalent Enhancer	Fetal Muscle Leg	muscle
3	chr14:77648800-77650800	Weak transcription	NHEK	skin
4	chr14:77648800-77653200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr14:77648800-77654800	Weak transcription	Right Atrium	heart
6	chr14:77649000-77650800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr14:77649000-77651000	Weak transcription	Pancreas	Pancrea
8	chr14:77649000-77651200	Enhancers	Colonic Mucosa	Colon
9	chr14:77649000-77652000	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr14:77649000-77653000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
11	chr14:77649000-77653200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr14:77649000-77653200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr14:77649000-77655000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr14:77649200-77651000	Weak transcription	Spleen	Spleen
15	chr14:77649200-77651200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr14:77649200-77651400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr14:77649200-77652200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr14:77649200-77652400	Enhancers	Fetal Intestine Small	intestine
19	chr14:77649200-77653200	Weak transcription	Brain Germinal Matrix	brain
20	chr14:77649200-77653400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr14:77649200-77654600	Enhancers	Fetal Intestine Large	intestine
22	chr14:77649400-77650800	Weak transcription	HMEC	breast
23	chr14:77649400-77652400	Enhancers	Rectal Mucosa Donor 31	rectum
24	chr14:77649400-77653000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr14:77649800-77653400	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr14:77650000-77650800	Enhancers	HepG2	liver
27	chr14:77650000-77651000	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr14:77650000-77651000	Enhancers	Rectal Mucosa Donor 29	rectum
29	chr14:77650000-77652000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
30	chr14:77650200-77651200	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr14:77650400-77650800	Flanking Active TSS	Brain Anterior Caudate	brain
32	chr14:77650400-77650800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
33	chr14:77650400-77651000	Bivalent Enhancer	Placenta	Placenta
34	chr14:77650400-77651400	Enhancers	Primary hematopoietic stem cells	blood
35	chr14:77650400-77651600	Bivalent Enhancer	Duodenum Mucosa	Duodenum
36	chr14:77650400-77651800	Enhancers	Monocytes-CD14+_RO01746	blood
37	chr14:77650400-77652000	Enhancers	Sigmoid Colon	Sigmoid Colon
38	chr14:77650400-77652200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
39	chr14:77650400-77654200	Enhancers	Esophagus	oesophagus
40	chr14:77650600-77650800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr14:77650600-77650800	Enhancers	Gastric	stomach
42	chr14:77650600-77651200	Enhancers	Fetal Brain Female	brain
43	chr14:77650600-77651400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr14:77650600-77651600	Enhancers	GM12878-XiMat	blood
45	chr14:77650600-77651800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr14:77650600-77652000	Enhancers	Brain Angular Gyrus	brain
47	chr14:77650600-77652200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr14:77650600-77653000	Weak transcription	Fetal Brain Male	brain
49	chr14:77650600-77654000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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